• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제16권2호
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• pp.219-230
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• 2005

목적 : 소아, 청소년기 발병 정신분열병은 성인기 발병 정신분열병보다 전구증상을 동반하여 점진적으로 발생하고 심각한 인지기능저하와 신경해부학적 결손을 보여주는 예후가 안좋은 질환으로 알려져왔다. 금번 연구의 목적은 13세를 기준으로 소아, 청소년기 발병 정신분열병을 두 그룹으로 나누어 인구학적 자료, 임상적 특징, 발달학적 지연, 심리학적 특성을 비교하여 소아-청소년기 발병 정신분열병에 대한 이해를 높이고자 하였다. 방법 : 17명의 소아기발병 정신분열병(매우이른 발병) 입원 환아와 16명의 청소년기발병 정신분열병(이른 발병) 입원 환아의 의무기록을 조사하였다. 두 그룹의 기록에서 성별, 연령, 정신과적 과거력, 전구증상 및 기간, 아형, 공존질환, 발달력상 지연, 처방약물 및 용량, 치료반응, 지능지수와 로샤검사를 평가하였다. 결과 : 소아기발병(매우 이른발병)과 청소년기 발병(이른 발병) 정신분열병의 평균 입원 연령은 12.69세$({\pm}2.34)$와 15.13세$({\pm}1.04)$였다. 소아기발병(매우 이른발병)과 청소년기 발병(이른 발병) 정신분열병의 평균 발병 연령은 10.79세 $({\pm}1.95)$와 14.46$({\pm}0.82)$세 였다. 소아기발병 (매우 이른발병)과 청소년기 발병 (이른 발병)의 평균 전구기간은 15.94개월$({\pm}12.33)$과 8.06$({\pm}6.10)$ 개월이었다. 소아기발병 (매우 이른 발병)과 청소년기 발병 (이른 발병)의 관해에까지 이르는데 걸리는 시간은 50.58$({\pm}24.67)$일과 30.06(18.04) 일이었다. 소아기발병 (매우 이른 발병) 그룹에서 관해에까지 이르는 기간이 길수록 일찍 발병 하였다. 두 그룹에서 전체지능, 언어성지능, 동작성 지능은 평균수준이었다. 결론 : 소아기발병(매우 이른 발병)과 청소년기 발병(이른 발병) 정신분열병은 이전의 연구결과와 마찬가지로 전구증상과 함께 전구기간이 존재하고 발달력상 지연이 있을 수 있으며 입원 당시 명백한 정신병적 증상이 존재한다는 점에서는 비슷하지만 청소년기 발병(이른 발병) 그룹에 비해 소아기발병(매우 이른발병) 그룹은 전구기간이 더 짧았으며 발병연령이 늦을수록 관해에 이르는 기간이 짧은 것으로 나타났다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권1호
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• pp.41-49
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• 2019

Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with "neonatal IBD" or "infantile-onset IBD" have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD.

• Neonatal Medicine
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• 제16권2호
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• pp.163-171
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• 2009

목 적 : 15년간 VLBWI에서 생후 3일내 발생한 조기 패혈증의 발생률과 원인균 및 위험인자를 분석하고 사망률에 대해 알아보고자 하였다. 방 법 : 1994년 11월부터 2008년 12월까지 삼성서울병원 신생아집중치료실에 입원한 출생체중 1,500 g 미만의 VLBWI 1,124명을 대상으로 의무기록을 후향적으로 분석하여 조기 패혈증의 발생률, 원인균, 위험인자 및 사망률에 대해 조사하였다. 결 과 : VLBWI의 3일내 조기 패혈증의 발생률은 1.5% (17명)였다. 조기 패혈증 원인균은 그람 양성균이 64.7% (11종), 그람 음성균 35.2% (6종)보다 높게 나타났고 Staphylococcus aureus (23.5%, 4명), Escherichia coli (23.5%, 4명), Enterococcus (17.6%, 3명) 순으로 많았다. 조기 패혈증과 관련된 위험인자는 질식 분만 (adjusted OR, 3.7; 95% CI, 1.3-10.3; P=0.01)이었고 전체 사망률은 조기 패혈증 군이 대조군에 비해 3.0배 높았고(adjusted hazard ratio, 3.0; 95% CI, 1.4-6.5; adjusted P=0.0039) 특히 3일 내 사망률은 조기 패혈증 군이 대조군에 비해 6.5배 높았다(adjusted hazard ratio, 6.5; 95% CI, 2.2 18.9; adjusted P=0.0005). 결 론 : VLBWI의 조기 패혈증은 흔하지 않지만 사망률이 매우 높다. 조기 패혈증의 원인균 및 위험인자를 밝혀 적절한 항생제 사용 및 주산기 관리로 조기 패혈증 사망률을 낮출 수 있도록 노력해야 할 것이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권5호
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• pp.411-422
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• 2020

With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권4호
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• pp.355-360
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• 2018

Recently, fecal microbiota transplantation (FMT) has been attracting attention as a possible medical treatment of ulcerative colitis (UC). A randomized controlled trial of FMT for children with UC is currently underway. Therapeutic effects of FMT for adults with UC remain controversial. We report two cases of early-onset UC in children. A patient was diagnosed with UC at age 1-year 9-month and underwent FMT at age 2-year 3-month. He attained clinical remission for three weeks after FMT, but then relapsed at four weeks, ultimately undergoing a total colectomy. Another child was diagnosed with UC at 2-year 10-month and she underwent FMT at age 5 years. She has remained in clinical remission following FMT for 24 months and her UC has been maintained without complications with tacrolimus and azathioprine. We report that FMT for early-onset UC appears to be safe and potentially effective.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제28권2호
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• pp.132-140
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• 2017

Objectives: Very early-onset schizophrenia (VEOS) is a type of psychosis having a low frequency, insidious onset, and devastating clinical outcome. In this study, the demographic features, information on medication, clinical outcomes, and intellectual capability of patients diagnosed with VEOS in a hospital were analyzed to provide therapeutic strategies for this type of schizophrenia. Methods: Using the electronic medical records of the National Center for Mental Health, 69 patients with VEOS were identified based on the DSM-5 criteria of schizophrenia. The data were summarized and analyzed according to the demographic characteristics, medications used, intellectual strength measured by the full intelligence quotient (FIQ) score, and current clinical status measured by the Clinical Global Impression-Severity (CGI-S) and various combinations of these parameters. Results: The screened study group contained similar numbers of males and females. The younger the onset of psychosis, the lower the frequency. The study population included a significantly higher proportion of births in the winter season than that of the general population. The 3 most frequently used antipsychotic medications were risperidone and its derivatives, clozapine and olanzapine. Valproic acid and divalproex sodium were the most commonly added drugs for outcome augmentation. 53.5% of the study population had received benzodiazepines and/or hypnotics. The average FIQ of the study population was 69.4, which is quite low compared to previous Korean studies with similar populations. There was a weak negative correlation between FIQ and CGI-S, but it was not statistically significant. The average CGI-S score was 4.2, which meant that the patients were moderately ill. Conclusion: This study demonstrated that patients with VEOS showed more frequent intellectual deficits at baseline and poorer outcomes than the control group. Risperidone, clozapine, valproic acid and their combinations were the most preferred medications for the treatment of psychosis. Benzodiazepines were quite commonly added for various reasons.

• Clinical and Experimental Pediatrics
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• 제57권11호
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• pp.465-471
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• 2014

Inflammatory bowel disease (IBD) is a chronic relapsing disorder of unknown etiology, which is believed to be multifactorial. Recently, the incidence of pediatric IBD has steeply increased in Korea since 2000. Poorly controlled disease activity can result in complications such as intestinal fistulae, abscess, and stricture, as well as growth retardation and delayed puberty in children. Because of a lack of confirmative tests, various diagnostic modalities must be used to diagnose IBD. Onset age, location, behavior, and activity are important in selecting treatments. Monogenic IBD must be excluded among infantile and refractory very-early-onset IBD. Early aggressive therapy using biologics has recently been proposed for peripubertal children to prevent growth failure and malnutrition.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.81-85
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• 2018

Amyloidosis is a rare disease that results from the deposition of extracellular protein in various body tissues, causing progressive organ dysfunction. Secondary renal amyloidosis is a rare but serious complication of chronic inflammatory bowel disease, particularly in patients with Crohn's disease or ulcerative colitis. We report a case of secondary renal amyloidosis in a pediatric patient who reported a 16-year history of "very early onset inflammatory bowel disease". Intensive treatment including repeated infliximab infusions improved clinical parameters of inflammatory bowel disease, although renal dysfunction showed progression. Amyloidosis should be considered in patients with IBD, particularly if they suffered disease progression.

• 대한유전성대사질환학회지
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• 제22권1호
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• pp.21-27
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• 2022

Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (VLCADD) leads to a defective 𝛽-oxidation, specifically during prolonged fasting, infection, or exercise. Patients with VLCADD usually suffer from cardiomyopathy, hypoketotic hypoglycemia, hepatic dysfunction, exercise intolerance, muscle pain, and rhabdomyolysis, and sometimes succumb to sudden death. VLCADD is generally classified into three phenotypes: severe early-onset cardiac and multiorgan failure, hypoketotic hypoglycemia, and later-onset episodic myopathy. Diagnostic evaluation comprises acylcarnitine analysis, genetic analysis, and VLCAD activity assay. In the acylcarnitine analysis, the key metabolites are C14:1, C14:2, C14, and C12:1. A C14:1 level >1 mmol/L strongly suggests VLCADD. Various treatment recommendations are available for this condition. Dietary management includes decreasing fat content, increasing medium-chain triglyceride levels, and decreasing fasting periods. Supplementation with L-carnitine is controversial. Triheptanoin (a seven-carbon fatty acid triglyceride) treatment demonstrates improvement of cardiac functions. Bezafibrate may improve the quality of life of patients with VLCAD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권1호
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• pp.34-42
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• 2018

Purpose: Monogenic inflammatory bowel disease (IBD) patients do not respond to conventional therapy and are associated with a higher morbidity. We summarized the clinical characteristics of monogenic IBD patients and compared their clinical outcomes to that of non-monogenic IBD patients. Methods: We performed a retrospective cohort study of all children <18 years old who were diagnosed with IBD between 2005 and 2016. A total of 230 children were enrolled. Monogenic IBD was defined as a presentation age less than 6 years old with confirmation of a genetic disorder. We subdivided the groups into monogenic IBD (n=18), non-monogenic very early-onset IBD (defined as patients with a presentation age <6 years old without a confirmed genetic disorder, n=12), non-monogenic IBD (defined as all patients under 18 years old excluding monogenic IBD, n=212), and severe IBD (defined as patients treated with an anti-tumor necrosis factor excluding monogenic IBD, n=92). We compared demographic data, initial pediatric Crohn disease activity index/pediatric ulcerative colitis activity index (PCDAI/PUCAI) score, frequency of hospitalizations, surgical experiences, and height and weight under 3rd percentile among the patients enrolled. Results: The initial PCDAI/PUCAI score (p<0.05), incidence of surgery per year (p<0.05), and hospitalization per year (p<0.05) were higher in the monogenic IBD group than in the other IBD groups. Additionally, the proportion of children whose weight and height were less than the 3rd percentile (p<0.05 and p<0.05, respectively) was also higher in the monogenic IBD group. Conclusion: Monogenic IBD showed more severe clinical manifestations than the other groups.